PRA-rdac - Progressive Retinal Atrophy/Abyssin

Race liée: 

Progressive loss of vision

Description: 
Progressive rod-cone degeneration
Symptomes: 
Progressive loss of vision (at night and then in daylight) culminating in blindness
Age d'aparition: 
Between 1 and 2 years old
Fréquence: 
45%
Gène impliqué: 
CEP290
Mutation testée: 
IVS50 + 9T>G
Transmission: 
Autosomal Recessive
Brevet: 
_
Remarques: 
_